Omphalocele with absent radial ray (ORR): a case with diploid-triploid mixoploidy.
We observed omphalocele, absence of radii, hypoplasia of one humerus, a hemivertebra, and syndactyly in a stillborn male at 22 weeks of gestation. Craniofacial and genitourinary abnormalities were absent. DNA measurement by flow cytometry on a paraffin-embedded autopsy specimen showed 32% triploid cells. ORR (omphalocele-radial ray) complex appears to be a consistent combination, and diploid-triploid mixoploidy may be one of its causes.
Lin
H J
HJ
Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California 90502, USA.
Schaber
B
B
Hashimoto
C H
CH
Barajas
L
L
Beall
M H
MH
Lachman
R S
RS
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D004171:Diploidy; D005313:Fetal Death / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D006554:Hernia, Umbilical / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008297:Male; D011859:Radiography; D011884:Radius / Q000002:abnormalities* / Q000000981:diagnostic imaging